RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets
npj Genomic Medicine, vol. 10, pp. 72
Abstract
While Research Electronic Data Capture (REDCap) is widely adopted in rare disease research, its unconstrained data format often lacks native interoperability with global health standards, limiting secondary use. We developed RareLink, an open-source framework implementing our published ontology-based rare disease common data model. It enables standardised data exchange between REDCap, international registries, and downstream analysis tools by linking Global Alliance for Genomics and Health Phenopackets and Health Level 7 Fast Healthcare Interoperability Resources (FHIR) instances conforming to International Patient Summary and Genomics Reporting profiles. RareLink was developed in three phases across Germany, Canada, South Africa, and Japan for registry and data analysis purposes. We defined a simulated Kabuki syndrome cohort and demonstrated data export to Phenopackets and FHIR. RareLink can enhance the clinical utility of REDCap through its global applicability, supporting equitable rare disease research. Broader adoption and coordination with international entities are thus essential to realise its full potential.
Authors 28
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Adam S L Graefe corresponding
University of Cologne · Berlin Institute of Health at Charité - Universitätsmedizin Berlin · University Hospital Cologne
Affiliation as printed
Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany. adam.graefe@charite.de
Institute for Biomedical Informatics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany. adam.graefe@charite.de
Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany
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Berlin Institute of Health at Charité - Universitätsmedizin Berlin
Affiliation as printed
Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany
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University of Cologne · University Hospital Cologne
Affiliation as printed
Medical Data Integration Center (MeDIC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany
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Berlin Institute of Health at Charité - Universitätsmedizin Berlin
Affiliation as printed
Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany
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University of Cologne · University Hospital Cologne
Affiliation as printed
Medical Data Integration Center (MeDIC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany
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Berlin Institute of Health at Charité - Universitätsmedizin Berlin
Affiliation as printed
Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany
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Berlin Institute of Health at Charité - Universitätsmedizin Berlin
Affiliation as printed
Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany
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Berlin Institute of Health at Charité - Universitätsmedizin Berlin
Affiliation as printed
Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany
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Berlin Institute of Health at Charité - Universitätsmedizin Berlin
Affiliation as printed
Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany
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Berlin Institute of Health at Charité - Universitätsmedizin Berlin
Affiliation as printed
Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany
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Affiliation as printed
Center for Rare Diseases, Medical Faculty, RWTH Aachen University, Aachen, Germany
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University of Cologne · University Hospital Cologne
Affiliation as printed
Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany, Cologne, Germany
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Affiliation as printed
Department of Neurology, University Medical Center Goettingen, Goettingen, Germany
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Universitätsmedizin Göttingen · University of Göttingen
Affiliation as printed
Department of Medical Informatics, University Medical Center Goettingen, Goettingen, Germany
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University of Calgary · Alberta Children's Hospital
Affiliation as printed
Section of Hematology and Immunology, Alberta Children's Hospital, Calgary, Canada
University of Calgary, Calgary, Canada
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University of Calgary · Alberta Children's Hospital
Affiliation as printed
Section of Hematology and Immunology, Alberta Children's Hospital, Calgary, Canada
University of Calgary, Calgary, Canada
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Affiliation as printed
Department of Pediatrics, Division of Immunology, Dalhousie University, IWK Health, Halifax, NS, Canada
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University of Calgary · Alberta Children's Hospital
Affiliation as printed
Section of Hematology and Immunology, Alberta Children's Hospital, Calgary, Canada
University of Calgary, Calgary, Canada
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Stellenbosch University · Tygerberg Hospital
Affiliation as printed
Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa
Medical Genetics, Tygerberg Hospital, Cape Town, South Africa
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Affiliation as printed
Department of Informatics for Genomic Medicine, ToMMo, Tohoku University, Sendai, Miyagi, Japan
INGEM, Tohoku University, Sendai, Miyagi, Japan
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University of Cologne · University Hospital Cologne
Affiliation as printed
Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany, Cologne, Germany
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Charité - Universitätsmedizin Berlin
Affiliation as printed
Center for Chronically Sick Children, Charité Universitätsmedizin Berlin, Berlin, Germany
Department of Pediatric Endocrinology and Diabetology, Charité University Hospital, Berlin, Germany
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Charité - Universitätsmedizin Berlin
Affiliation as printed
Berlin Center for Rare Diseases-Charité University Hospital, Berlin, Germany
Department of Pediatric Endocrinology and Diabetology, Charité University Hospital, Berlin, Germany
Deutsches Zentrum für Kinder- und Jugendgesundheit (DZKJ), partner site Berlin, Berlin, Germany
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Lawrence Berkeley National Laboratory
Affiliation as printed
Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA
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University of North Carolina at Chapel Hill
Affiliation as printed
Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, NC, USA
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Berlin Institute of Health at Charité - Universitätsmedizin Berlin · The Jackson Laboratory for Genomic Medicine
Affiliation as printed
Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany
The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA
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Berlin Institute of Health at Charité - Universitätsmedizin Berlin
Affiliation as printed
Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany
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University of Cologne · Fraunhofer Institute for Applied Information Technology · University Hospital Cologne
Affiliation as printed
Fraunhofer Institute for Applied Information Technology, Sankt Augustin, Germany
Institute for Biomedical Informatics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany
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